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OR51E1

Synonyms
D-GPCR, DGPCR, GPR136, GPR164, OR51E1P, OR52A3P, POGR, PSGR2
External resources
Summary
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
33
Likely pathogenic
0
VUS
578
Likely benign
77
Benign
0

Patient Phenotypes

Proportions of phenotypes among 33 patients carrying pathogenic or likely pathogenic variants on OR51E1 gene are displayed below. The following symptoms were found in patients with a variant in OR51E1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
39.4%
Abnormality of the nervous system
30.3%
Abnormality of the musculoskeletal system
24.2%
Abnormality of head or neck
12.1%
Abnormality of limbs
9.1%
Abnormality of the cardiovascular system
6.1%
Abnormality of the digestive system
6.1%
Abnormality of the genitourinary system
6.1%
Abnormality of the immune system
6.1%
Neoplasm
6.1%
Abnormal cellular phenotype
3%
Abnormality of blood and blood forming tissues
3%
Abnormality of metabolism homeostasis
3%
Abnormality of the ear
3%
Abnormality of the endocrine system
3%
Abnormality of the integument
3%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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